RYR1 c.12962G>T ;(p.R4321L)

Variant ID: 19-39055936-G-T

NM_000540.2(RYR1):c.12962G>T;(p.R4321L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Pharmacogenomics
Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ
Publication Date: 2019-09

Variant appearance in text: RYR1: Arg4321Leu
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
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